Details of Disease | DrugMAP

General Information of Disease (ID: DISJFWTC)

Disease Name	Meesmann corneal dystrophy
Synonyms	Meesmann corneal epithelial dystrophy; corneal dystrophy, juvenile epithelial, of Meesmann; Meesman dystrophy; corneal dystrophy, Meesmann; corneal dystrophy, juvenile epithelial of Meesmann; corneal dystrophy, Meesmann epithelial; stocker-Holt dystrophy; juvenile hereditary epithelial dystrophy of Meesmann; juvenile hereditary epithelial dystrophy; Meesmann corneal dystrophy; MECD; juvenile epithelial of Meesmann corneal dystrophy
Definition	Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.
Disease Hierarchy	DISW3W2N: Epithelial and subepithelial corneal dystrophy DISYKSRF: Genetic disease DISPFJ0G: Superficial corneal dystrophy DISJFWTC: Meesmann corneal dystrophy
Disease Identifiers	MONDO ID MONDO_0007379 MESH ID D053559 UMLS CUI C0339277 MedGen ID 83283 HPO ID HP:0007755 Orphanet ID 98954 SNOMED CT ID 1674008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MLYCD	TT9Z4YD	Strong	Biomarker	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT12	OTFOWNH2	Supportive	Autosomal dominant	[2]
KRT3	OT5U1Y8L	Supportive	Autosomal dominant	[2]
SECTM1	OT5500CF	moderate	Genetic Variation	[3]
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References

1	Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.Mol Vis. 2008 Sep 15;14:1713-8.
2	Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997 Jun;16(2):184-7. doi: 10.1038/ng0697-184.
3	A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.Br J Ophthalmol. 2002 Jul;86(7):729-32. doi: 10.1136/bjo.86.7.729.